Cause Of Clefts Research Articles

Wisdom behind understanding cleft lip and palate

In medicine, one of the most prevalent birth defects is clefts. This article describes the prevalence of clefts among different racial groups and geographic areas. According to research, the cleft incidence is primarily higher among Native Americans and Asians. The exact cause of clefts is unknown, but its incidence is influenced by various environmental and genetic factors. As shown in this article from an embryological standpoint, prenatal care during the first trimester is essential to prevent clefts. It is widely accepted that poorer economic levels have higher rates of cleft prevalence than other classes. Although solid relationships have been found through investigations, it has not been established beyond a doubt. The main goal of this article is to encourage doctors to raise awareness and educate parents from all socioeconomic backgrounds about the risk factors for cleft lip and palate before conception. This aims to prevent both the physical effects and the psychological trauma for the child. The article also discusses how cleft prevention and effective care can positively impact the mental and physical health of both patients and their families. Cleft treatment involves a multidisciplinary strategy.

Cleft Lip and Palate - A Review Article

Craniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact. The cause of clefts is multifactorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will further facilitate the birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate. Keywords: Cleft lip, Cleft palate, Dentistry, Etiology, Management. .

Genetic Factors in Nonsyndromic Orofacial Clefts.

Orofacial clefts (OFCs) are the most common congenital birth defects in humans and immediately recognized at birth. The etiology remains complex and poorly understood and seems to result from multiple genetic and environmental factors along with gene–environment interactions. It can be classified into syndromic (30%) and nonsyndromic (70%) clefts. Nonsyndromic OFCs include clefts without any additional physical or cognitive deficits. Recently, various genetic approaches, such as genome-wide association studies (GWAS), candidate gene association studies, and linkage analysis, have identified multiple genes involved in the etiology of OFCs.This article provides an insight into the multiple genes involved in the etiology of OFCs. Identification of specific genetic causes of clefts helps in a better understanding of the molecular pathogenesis of OFC. In the near future, it helps to provide a more accurate diagnosis, genetic counseling, personalized medicine for better clinical care, and prevention of OFCs.

P837 Isolated cleft posterior mitral valve leaflet

Abstract A 78-year-old man with a history of hypertension and diabetes mellitus was referred to the ER of our hospital due to an episode of shortness of breath of new onset, associated with dizziness and central thoracic pain of 5 minutes duration. Significant physical examination findings included a V/VI holosystolic murmur at fourth intercostal space with radiation to the axilla. ECG showed no significant abnormalities and cardiac enzymes were within normal ranges The TTE and 3D TOE showed dilated left atrial with normal ventricular size and function with an isolated cleft posterior mitral valve leaflet that bisected into two separate leaflets of identical morphology. Concomitant posterolateral leaflet prolapse was also present with two eccentric, posteriorly, and interatrial septum directed regurgitant jets visualized with colour flow Doppler. Cleft mitral valve leaflet (CMVL) is an uncommon congenital cause of mitral regurgitation. Clefts are slit-like holes or defects hypothesized to be a result of incomplete expression of an endocardial cushion defect and most commonly involve the anterior mitral valve leaflet with a paediatric incidence of 1:1340. Clefts affecting only the posterior mitral valve leaflet are extremely rare . Important co-existing anomalies with either posterior and/or anterior CMVL include counterclockwise rotation of the papillary muscles, the presence of an accessory papillary muscle or mitral valve leaflet, atrial septal defects, and mitral valve prolapse. Acquired causes of clefts include infective endocarditis or trauma from surgical exploration. Regurgitation in CMVL results from blood flow directly through the cleft itself or from malcoaptation from accessory chordae with or without papillary muscle distortion. Early detection through 3D TEE echocardiography can provide accurate anatomical images of the mitral valve structure and identify associated congenital anomalies. Conclusion Posterior CMVL is an extremely rare cause of mitral insufficiency. 3D TEE early recognition of this rare clinical entity and co-existent anomalies can identify afflicted patients who can be closely monitored for the progression of symptoms as well as ventricular dysfunction. 3D TEE permits a personalized medicine tailoring the medical treatment to the individual characteristics of each patient. Abstract P837 Figure. Isolated cleft posterior mitral valve

Introducing A Family With Tens of Rare Craniofacial Clefts.

Craniofacial clefts are one of the rarest congenital malformations. When it comes to genetic inheritance patterns of craniofacial clefts, there are few studies on this subject due to the rarity and sporadic nature. In this study an extended family whose members have multiple craniofacial clefts has been introduced. The authors haphazardly found a family whose members have craniofacial clefts, either Tessier no. 0 or both Tessier nos. 0 and 14, and, consequently, they were categorized into 3 groups based on the severity of clefts. Forty-two craniofacial clefts were noticed within the family. Twenty-two (52.3%) of patients were females and 20 (47.6%) were males. Twenty-three (54.8%) members had isolated Tessier no. 0 cleft, whereas 19 (45.2%) members had both Tessier nos. 0 and 14. Of all 42 patients, 18 (42.8%), 3 (7.1%), and 21 (50%) patients had severe, intermediate, and mild clefts, respectively. The present study reveals that in some patients genetic background is likely to be the cause of clefts.

What If the Cleft Child is Yours?

<div><p><em>Every 3 minutes, a child is born with a cleft lip or cleft palate and make the child to suffer from hunger and thirst, difficulty with speech and social stigma (Operation Smile, n.d.). Yes, Cleft (lip/palate)<strong> </strong>is usually accompanied with stigma from the society especially when they lack information about it. When a baby is born into the world the whole family rejoices but in the case of the cleft (lip/palate)<strong> </strong>child the parents end up in shock and sadness. It even makes the parents and their families think that having a cleft child is a curse in itself. One of the factors that the parents’ of cleft (lip/palate) child limit themselves from taking their cleft (lip/palate) child to social gathering as they are scared that the society may have a negative attitude towards them. Assumptions about its cause make the parents difficult to adjust to the situation. People would talk behind them discussing about the cause of cleft (lip/palate)<strong> </strong>saying that their parents did something wrong that is the reason why their cleft child is the consequence.</em> <em>Twelve year old twins from a small state (Meghalaya) in India do not want to go to school or play with the other children because they were named as daughters of the devil and ugly simply because they were born with a cleft lip. </em></p></div>

Cleft Lip and Palate: A Review

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Cleft has significant psychological and socio-economic effect on patient quality of life and requires a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors plays a significant role in the incidence and cause of cleft. In the following review article, the embryology, classification, etiology, clinical features and management of cleft lip and palate are discussed along with primary goals of surgical repair to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations.

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of the lip with or without cleft palate (CL/P). 'OzCleft', a family-based genotype/phenotype study, is investigating this further. Participation for families involves various clinical investigations of the child with the cleft, and their unaffected sibling(s) and parents. Informal feedback from individuals involved in OzCleft suggested that participation in this research programme had benefits for families. Taking a qualitative approach, this study sought to investigate this hypothesis further. Semi-structured in-depth interviews were conducted with nine parents who had participated in OzCleft. All parents described participation as a positive experience for themselves and their families. Perceived benefits included a greater appreciation of the cleft treatment experience by unaffected family members. Being involved in a genetic study raised issues for parents regarding the cause of clefting in their child. While some parents found the possibility of a genetic component reassuring, it also raised questions about the potential implications for future generations. Parents were largely unsure about how to communicate this information to their children and the predictive value of this information. This study suggests a lack of genetic understanding and/or perceived value of genetic information by parents of children with CL/P that, in turn, highlights the need for increased support from genetic health professionals in this area.

Cleft Lip – A Comprehensive Review

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip are discussed. The primary goals of surgical repair are to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations. Pre-surgical orthopedics are frequently employed prior to definitive repair to improve outcomes. Long term follow up and quality of life studies are discussed.

Addressing the challenges of cleft lip and palate research in India

ABSTRACTThe Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

Addressing the challenges of cleft lip and palate research in India

The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model

Understanding the etiology of birth defects is an important step toward developing improved treatment and preventive strategies. Most birth defects have an underlying genetic basis, ranging from single genes playing dominant or recessive roles in Mendelian disorders to a mixture of contributions from multiple genes and environmental triggers in complex traits. The purpose of this article is to provide an overview of genetic approaches to identifying disease genes for genetically complex birth defects. A review of the literature describing successes and limitations for identifying disease genes for complex traits was conducted. Cleft lip and cleft palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications. The Online Mendelian Inheritance in Man catalog (OMIM; http://www3.ncbi.nlm.nih.gov/Omim) lists more than 400 single-gene causes of clefts of the lip and/or palate. Genetic causes of clefting also include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. Genetic causes of birth defects can be identified using an increasingly powerful combination of careful sample collection, molecular analytic methods, and statistical evaluations. We will describe a range of approaches to search for genetic factors of birth defects and use our own work with cleft lip and palate as a model.

Managing the Cleft Lip and Palate Patient

We have attempted to elucidate, first through an examination of the basic science of clefting and then through a description of the roles of the various members of the cleft palate team, an understanding of the multiplicity of problems faced by this heterogeneous group of children with cleft lip or palate. With an incidence of cleft of 1 in 700 births, all practicing pediatricians will at some time be faced with a patient with a cleft. Pediatric management begins in the hospital nursery by ruling out possible associated anomalies (e.g., congenital heart disease or urinary tract) or syndromes. At the same time, cleft palate nursers may be needed to overcome feeding problems. Simultaneously, counseling for the family begins with a positive attitude toward outcome and an initial explanation of the schedule of corrective procedures, i.e., lip repair at 3 months of age and palate repair at about 1 year. The counseling should incorporate an understanding of the cause of clefting, both its genetics and teratogenetics, and then proceed to noting the actual recurrence risks of 1% for a new cleft and 16% if there is a positive family history in a first-degree relative. The recurrence risks in recognized syndromes may follow mendelian patterns. Later, the pediatrician can help the family deal with multiple ear infections and the likely need for tympanostomy tubes, anticipating the need for tubes in a way that might facilitate placement at the time of anesthesia for the lip or the palate repairs. An understanding of the speech and language difficulties that may be encountered in later infancy may relieve parental anxiety. Later, after palate repair, knowledge of velopharyngeal incompetence may avert premature hypernasal speech problems caused by adenoidectomy, which should be avoided if at all possible. The pediatrician needs to be aware of the tooth malformations that accompany clefting of the alveolus as well as the increased susceptibility to caries, so that the family may be directed to early intervention by the pediatric dentist. With support by pediatrics of the efforts of pediatric dentistry, the child is then in optimal condition for orthodontics. Continually keeping the child's emotional adjustment in mind, the pediatrician can encourage the child and family, knowing that with palatal expansion techniques plus possible bone graft surgery to the cleft alveolus at about 9 years of age, the child may be orthodontically corrected to very near normal.(ABSTRACT TRUNCATED AT 400 WORDS)

CONGENITAL MALFORMATIONS INDUCED IN RATS BY MATERNAL NUTRITIONAL DEFICIENCY

Many theories have been advanced concerning the causes of cleft palate. Early theories attempted to explain this developmental defect by abnormal mechanical influences. Abnormal pressure of the mandible and tongue, 1 and interposition of extremities, 2 of tumors 3 or of supernumerary teeth 4 were blamed for the failure of union of the various parts which constitute the normal palate. Amniotic pressure and amniotic bands received special attention as possible causes of facial clefts. 5 Hydrocephalus causing broadening of the base of the skull was also mentioned. 6 None of these theories could be sufficiently supported, and it is thought today that the conditions once considered as causative were only accidental or collateral abnormalities found in the affected persons. Reports of familial occurrence of cleft lip and palate date back to the eighteenth century, 7 and numerous instances of families in which these malformations occurred repeatedly and through several generations